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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

Term:Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 24
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Accession:DOID:9001671 term browser browse the term
Definition:An autosomal recessive muscular dystrophy with onset in childhood. Common features include calf hypertrophy, increased serum creatine kinase, and muscle biopsy often shows dystrophic features.
Synonyms:exact_synonym: Autosomal Recessive Limb-Girdle Muscular Dystrophy 24;   LGMDR24;   MDDGC8;   MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 8;   MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY, LIMB-GIRDLE, POMGNT2-RELATED;   limb-girdle muscular dystrophy-dystroglycanopathy (type C8)
 primary_id: OMIM:618135
For additional species annotation, visit the Alliance of Genome Resources.


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Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 24 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pomgnt2 protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-) ISO ClinVar Annotator: match by term: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 8 ClinVar
OMIM
PMID:25741868 PMID:27066570 NCBI chr 8:130,615,482...130,631,144
Ensembl chr 8:130,615,711...130,617,833
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16123
    Developmental Diseases 9597
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8441
        genetic disease 7944
          monogenic disease 5725
            autosomal genetic disease 4875
              autosomal recessive disease 2668
                autosomal recessive limb-girdle muscular dystrophy 103
                  Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 24 1
Path 2
Term Annotations click to browse term
  disease 16123
    disease of anatomical entity 15370
      nervous system disease 10975
        peripheral nervous system disease 2430
          neuropathy 2245
            neuromuscular disease 1766
              muscular disease 1168
                muscle tissue disease 790
                  myopathy 643
                    muscular dystrophy 312
                      limb-girdle muscular dystrophy 144
                        autosomal recessive limb-girdle muscular dystrophy 103
                          Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 24 1
paths to the root